Genetic Research on Cerebrovascular Disease and Stroke

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 25 September 2025 | Viewed by 50

Special Issue Editor


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Guest Editor
Department of Medicine and Surgery, University of Parma, Parma, Italy
Interests: adenosine deaminase 2 deficiency syndrome; ischemic stroke; anticoagulant; subarachnoid haemorrhage; cerebral arteries; carotid

Special Issue Information

Dear Colleagues,

Stroke, both ischemic and hemorrhagic, represents a growing societal challenge due to its significant impact on patients, caregivers, and healthcare systems. The disease is the end result of complex interactions between genetic and environmental factors. Recent advances in genetic research shed light on the intricate regulatory mechanisms that contribute to the development and consequences of such condition. Up to 50% of stroke risk is unexplained by conventional risk factors, with a large part of this unexplained risk thought to be the result of genetic factors. Recent advances in the field of gene identification—notably, genome-wide association studies (GWAs)—have resulted in the tremendous growth of genetic variants being related to disease phenotypes, especially with regard to brain ischemia. Likewise, although monogenic disorders account for about 1% to 5% of all strokes, their diagnosis is important for correct management, including genetic counseling, preventive measures, and therapeutic decisions, and discovering their pathogenetic mechanism could provide insight into the mechanisms underlying multifactorial ischemic stroke. A large number of single-gene disorders have been described so far, as well-known causes of stroke. Despite these achievements, challenges remain in translating genetic and genomic discoveries into clinical practice due to disease heterogeneity and the complexity of stroke pathophysiology. Future integration of genetic technologies holds promise for transforming diagnostic and prognostic paradigms, offering hope for improved patient outcomes and precision medicine approaches.

This Special Issue aims to advance genetic and genomic research in stroke, highlighting studies that explore the underlying genetic and genomic mechanisms and their clinical implications. Our objective is to deepen insights into genetic predispositions, genetic markers, comparative genomics, genetic diversity, and the overall genetic and genomic mechanisms driving stroke.

Prof. Dr. Alessandro Pezzini
Guest Editor

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Keywords

  • stroke
  • genetics
  • genomics
  • risk factors
  • outcome

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Published Papers

This special issue is now open for submission.
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